R30S (p.Arg30Ser) variant of CDK7 (Cyclin-dependent kinase 7)
R30S (p.Arg30Ser) in CDK7 (Cyclin-dependent kinase 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R30S (p.Arg30Ser) variant details
- p.Arg30Ser
- TOPMed rs1302332585
- gnomAD rs1302332585
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.25
- CADD 23.30
- PolyPhen-2 0.31
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available